Cargando…

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and increased incidence of cancer. Molecular diagnosis of C...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bonafé, Luisa, Dermitzakis, Emmanouil T, Unger, Sheila, Greenberg, Cheryl R, Campos-Xavier, Belinda A, Zankl, Andreas, Ucla, Catherine, Antonarakis, Stylianos E, Superti-Furga, Andrea, Reymond, Alexandre
Formato:	Texto
Lenguaje:	English
Publicado:	Public Library of Science 2005
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1262189/ https://www.ncbi.nlm.nih.gov/pubmed/16244706 http://dx.doi.org/10.1371/journal.pgen.0010047

Ejemplares similares

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia
por: Royer-Bertrand, Beryl, et al.
Publicado: (2015)

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases
por: Kumps, Camille, et al.
Publicado: (2020)

A structure and evolutionary-based classification of solute carriers
por: Ferrada, Evandro, et al.
Publicado: (2022)

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution
por: Jackson, Gail C, et al.
Publicado: (2012)

LncRNA-RMRP Acts as an Oncogene in Lung Cancer
por: Meng, Qingjun, et al.
Publicado: (2016)

Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report
por: Hinrichs, Timo, et al.
Publicado: (2010)

Long Non-coding RNA RMRP in the Pathogenesis of Human Disorders
por: Hussen, Bashdar Mahmud, et al.
Publicado: (2021)

Spinal cerebrotendinous xanthomatosis: A case report and literature review
por: Atallah, Isis, et al.
Publicado: (2021)

RMRP Is a Non-Coding RNA Essential for Early Murine Development
por: Rosenbluh, Joseph, et al.
Publicado: (2011)

Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation
por: Steinbusch, Mandy M. F., et al.
Publicado: (2017)

Inactivation of the tumor suppressor p53 by long noncoding RNA RMRP
por: Chen, Yajie, et al.
Publicado: (2021)

Correction to: Elevated lactate in Mauriac syndrome: still a mystery
por: Touilloux, Brice, et al.
Publicado: (2021)

Elevated lactate in Mauriac syndrome: still a mystery
por: Touilloux, Brice, et al.
Publicado: (2021)

Current Care and Investigational Therapies in Achondroplasia
por: Unger, Sheila, et al.
Publicado: (2017)

The effect of genetic variation on promoter usage and enhancer activity
por: Garieri, Marco, et al.
Publicado: (2017)

The emerging role of long noncoding RNA RMRP in cancer development and targeted therapy
por: Hao, Qian, et al.
Publicado: (2022)

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells
por: Attanasio, Catia, et al.
Publicado: (2008)

GENCODE: producing a reference annotation for ENCODE
por: Harrow, Jennifer, et al.
Publicado: (2006)

Off-Target Effect of Endogenous siRNA Derived from RMRP in Human Cells
por: Maida, Yoshiko, et al.
Publicado: (2013)

Long Non-Coding RNA RMRP Contributes to Sepsis-Induced Acute Kidney Injury
por: Zhang, Xia, et al.
Publicado: (2021)

Classical homocystinuria, is it safe to exercise?
por: Tankeu, Aurel T., et al.
Publicado: (2021)

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6
por: Caraffi, Stefano Giuseppe, et al.
Publicado: (2019)

HuR and GRSF1 modulate the nuclear export and mitochondrial localization of the lncRNA RMRP
por: Noh, Ji Heon, et al.
Publicado: (2016)

Upregulation of lncRNA RMRP promotes the activation of cardiac fibroblasts by regulating miR-613
por: Zhang, Shuang-Yin, et al.
Publicado: (2019)

The long noncoding RNA of RMRP is downregulated by PERK, which induces apoptosis in hepatocellular carcinoma cells
por: Yukimoto, Atsushi, et al.
Publicado: (2021)

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
por: Rosato, Simonetta, et al.
Publicado: (2022)

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome
por: Nica, Alexandra C., et al.
Publicado: (2013)

Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants
por: Lebon, Sébastien, et al.
Publicado: (2021)

The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways
por: Fukada, Toshiyuki, et al.
Publicado: (2008)

Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways
por: Fukada, Toshiyuki, et al.
Publicado: (2008)

DDX5 and its associated lncRNA Rmrp modulate Th17 cell effector functions
por: Huang, Wendy, et al.
Publicado: (2015)

Long Noncoding RNA RMRP Suppresses the Tumorigenesis of Hepatocellular Carcinoma Through Targeting microRNA-766
por: Shao, Cunhua, et al.
Publicado: (2020)

RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer
por: Luzón-Toro, Berta, et al.
Publicado: (2021)

Widespread association of ERα with RMRP and tRNA genes in MCF-7 cells and breast cancers
por: Malcolm, Jodie R., et al.
Publicado: (2022)

Identifying protein-coding genes in genomic sequences
por: Harrow, Jennifer, et al.
Publicado: (2009)

LncRNA‐RMRP promotes nucleus pulposus cell proliferation through regulating miR‐206 expression
por: Wang, Xuesong, et al.
Publicado: (2018)

Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia
por: Tan, Ryan, et al.
Publicado: (2023)

EGASP: the human ENCODE Genome Annotation Assessment Project
por: Guigó, Roderic, et al.
Publicado: (2006)

Current themes in molecular pediatrics: molecular medicine and its applications
por: Superti-Furga, Andrea, et al.
Publicado: (2010)

Cell biology: A key driver of therapeutic innovation
por: Hantschel, Oliver, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_4m26onambk22ljvne0bnrl1mtl